Incidental Mutation 'R0133:Zkscan3'
ID 21780
Institutional Source Beutler Lab
Gene Symbol Zkscan3
Ensembl Gene ENSMUSG00000021327
Gene Name zinc finger with KRAB and SCAN domains 3
Synonyms Zfp306, 2810435N07Rik, Skz1, Zfp307
MMRRC Submission 038418-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0133 (G1)
Quality Score 175
Status Validated (trace)
Chromosome 13
Chromosomal Location 21571173-21586925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21578944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 155 (P155T)
Ref Sequence ENSEMBL: ENSMUSP00000153231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070785] [ENSMUST00000116433] [ENSMUST00000116434] [ENSMUST00000117721] [ENSMUST00000223831] [ENSMUST00000224820]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070785
AA Change: P184T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
AA Change: P184T

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 273 4.07e-6 SMART
ZnF_C2H2 313 335 4.17e-3 SMART
ZnF_C2H2 341 363 1.38e-3 SMART
ZnF_C2H2 369 391 9.88e-5 SMART
ZnF_C2H2 397 419 1.95e-3 SMART
ZnF_C2H2 425 447 3.95e-4 SMART
ZnF_C2H2 479 501 5.21e-4 SMART
ZnF_C2H2 507 529 1.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116433
AA Change: P184T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327
AA Change: P184T

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 273 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116434
AA Change: P184T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
AA Change: P184T

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 273 4.07e-6 SMART
ZnF_C2H2 313 335 4.17e-3 SMART
ZnF_C2H2 341 363 1.38e-3 SMART
ZnF_C2H2 369 391 9.88e-5 SMART
ZnF_C2H2 397 419 1.95e-3 SMART
ZnF_C2H2 425 447 3.95e-4 SMART
ZnF_C2H2 479 501 5.21e-4 SMART
ZnF_C2H2 507 529 1.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117721
AA Change: P184T

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
AA Change: P184T

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 256 3.96e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184464
Predicted Effect probably benign
Transcript: ENSMUST00000223831
AA Change: P17T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224820
AA Change: P155T

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1620 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.4%
Validation Efficiency 99% (83/84)
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T C 11: 102,996,214 (GRCm39) S172P probably damaging Het
Akap6 A T 12: 53,186,254 (GRCm39) K1223* probably null Het
Akna G A 4: 63,297,598 (GRCm39) Q819* probably null Het
Ankrd2 T C 19: 42,032,510 (GRCm39) V257A probably benign Het
Arap1 T A 7: 101,035,436 (GRCm39) D30E probably damaging Het
Atp6v0d2 T C 4: 19,910,578 (GRCm39) probably benign Het
Blm T A 7: 80,152,115 (GRCm39) I611F possibly damaging Het
Ccng2 A G 5: 93,421,240 (GRCm39) K250R probably benign Het
Cdhr3 A G 12: 33,142,751 (GRCm39) L8P possibly damaging Het
Csf2rb T G 15: 78,223,204 (GRCm39) probably benign Het
Ctbs A G 3: 146,163,223 (GRCm39) I204V probably benign Het
Cxcl16 T A 11: 70,349,596 (GRCm39) E76D possibly damaging Het
Dhx15 T C 5: 52,311,414 (GRCm39) I689V possibly damaging Het
Dlk2 T C 17: 46,609,868 (GRCm39) probably benign Het
Dnah2 A T 11: 69,311,835 (GRCm39) M4452K probably damaging Het
Dok4 T A 8: 95,591,991 (GRCm39) I280F probably benign Het
Dsc3 T C 18: 20,104,639 (GRCm39) T563A probably damaging Het
Dsg1b C T 18: 20,537,935 (GRCm39) A617V probably damaging Het
Eps8l2 C T 7: 140,942,120 (GRCm39) P721S unknown Het
Evx2 T C 2: 74,489,426 (GRCm39) D112G possibly damaging Het
Fam124a C A 14: 62,843,782 (GRCm39) T430K possibly damaging Het
Fbrs C T 7: 127,088,782 (GRCm39) probably benign Het
Fbxw14 T C 9: 109,103,647 (GRCm39) T22A probably benign Het
Fmo5 T G 3: 97,552,952 (GRCm39) V300G probably damaging Het
Gadl1 T C 9: 115,770,411 (GRCm39) S75P probably benign Het
Galnt2 T G 8: 125,065,277 (GRCm39) I469S probably benign Het
Gga3 T A 11: 115,479,805 (GRCm39) probably benign Het
Gm10647 T C 9: 66,705,771 (GRCm39) probably benign Het
Gm14180 C A 11: 99,625,043 (GRCm39) C25F unknown Het
Grid2 A T 6: 64,297,116 (GRCm39) D493V probably damaging Het
Gzmc T A 14: 56,469,754 (GRCm39) Y182F possibly damaging Het
Hecw2 A C 1: 53,869,899 (GRCm39) L1443R probably damaging Het
Igkv4-62 A G 6: 69,377,053 (GRCm39) I32T probably benign Het
Ikzf1 T A 11: 11,691,015 (GRCm39) probably null Het
Il27ra G A 8: 84,760,571 (GRCm39) probably benign Het
Jmjd1c C A 10: 67,076,587 (GRCm39) A2137D probably benign Het
Kcnc2 T C 10: 112,294,502 (GRCm39) C579R probably damaging Het
Kdr T C 5: 76,112,498 (GRCm39) T862A probably damaging Het
Kif17 T C 4: 138,005,556 (GRCm39) S182P possibly damaging Het
Klf5 A T 14: 99,539,318 (GRCm39) T164S probably benign Het
Ksr2 T G 5: 117,693,359 (GRCm39) V269G possibly damaging Het
Mcm5 T A 8: 75,847,539 (GRCm39) D445E probably damaging Het
Mlkl T C 8: 112,054,580 (GRCm39) I186V probably damaging Het
Muc4 A T 16: 32,591,978 (GRCm39) S3017C possibly damaging Het
Myo15a T C 11: 60,368,676 (GRCm39) F479L possibly damaging Het
Myo6 A G 9: 80,181,257 (GRCm39) probably benign Het
Myom1 T A 17: 71,354,782 (GRCm39) V393E probably damaging Het
Nup98 T A 7: 101,788,859 (GRCm39) probably null Het
Odf2l A G 3: 144,854,302 (GRCm39) N383S probably damaging Het
Olfml3 A C 3: 103,644,342 (GRCm39) probably null Het
Or10q1 T A 19: 13,727,352 (GRCm39) I294N probably damaging Het
Or7g17 G A 9: 18,767,925 (GRCm39) M1I probably null Het
Or8g18 A G 9: 39,149,307 (GRCm39) Y141H probably benign Het
Or8j3b A T 2: 86,205,159 (GRCm39) V199E possibly damaging Het
Plxna4 A T 6: 32,174,009 (GRCm39) D1195E probably benign Het
Ppp1r1a T A 15: 103,446,247 (GRCm39) H20L probably damaging Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Prom2 A G 2: 127,380,258 (GRCm39) probably benign Het
Rasal3 T C 17: 32,622,357 (GRCm39) M1V probably null Het
Rhoj A G 12: 75,441,194 (GRCm39) probably null Het
Rnf40 C T 7: 127,196,032 (GRCm39) probably null Het
Slc15a3 T C 19: 10,820,614 (GRCm39) L77P probably damaging Het
Slc26a6 T C 9: 108,738,522 (GRCm39) V586A possibly damaging Het
Slc30a10 T A 1: 185,187,370 (GRCm39) L37Q probably damaging Het
Slc43a2 T A 11: 75,454,403 (GRCm39) M316K probably benign Het
Smarcal1 T C 1: 72,672,010 (GRCm39) F844L probably benign Het
Snx19 A G 9: 30,339,912 (GRCm39) E350G possibly damaging Het
Tecta T A 9: 42,278,524 (GRCm39) T995S probably benign Het
Tmc3 T G 7: 83,261,681 (GRCm39) N586K probably damaging Het
Tmem107 T A 11: 68,963,239 (GRCm39) probably benign Het
Tmem247 A G 17: 87,225,989 (GRCm39) Q51R probably benign Het
Tmpo G T 10: 90,999,900 (GRCm39) probably benign Het
Ubr5 T A 15: 37,996,815 (GRCm39) T1894S probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Xirp2 T A 2: 67,347,468 (GRCm39) H3236Q probably benign Het
Zfand4 G A 6: 116,291,700 (GRCm39) D545N probably benign Het
Other mutations in Zkscan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Zkscan3 APN 13 21,578,261 (GRCm39) splice site probably benign
IGL02406:Zkscan3 APN 13 21,572,348 (GRCm39) missense possibly damaging 0.71
IGL02725:Zkscan3 APN 13 21,579,063 (GRCm39) missense possibly damaging 0.85
IGL02741:Zkscan3 APN 13 21,578,164 (GRCm39) missense probably benign 0.05
3-1:Zkscan3 UTSW 13 21,572,051 (GRCm39) missense probably benign 0.32
R0040:Zkscan3 UTSW 13 21,579,090 (GRCm39) splice site probably null
R0040:Zkscan3 UTSW 13 21,579,090 (GRCm39) splice site probably null
R0660:Zkscan3 UTSW 13 21,572,630 (GRCm39) missense probably damaging 1.00
R0737:Zkscan3 UTSW 13 21,572,766 (GRCm39) missense probably benign
R1250:Zkscan3 UTSW 13 21,572,694 (GRCm39) missense probably benign 0.32
R1671:Zkscan3 UTSW 13 21,580,305 (GRCm39) missense possibly damaging 0.93
R1926:Zkscan3 UTSW 13 21,580,616 (GRCm39) missense possibly damaging 0.88
R2899:Zkscan3 UTSW 13 21,578,143 (GRCm39) missense probably damaging 1.00
R4119:Zkscan3 UTSW 13 21,578,119 (GRCm39) missense possibly damaging 0.65
R4120:Zkscan3 UTSW 13 21,578,119 (GRCm39) missense possibly damaging 0.65
R4606:Zkscan3 UTSW 13 21,577,953 (GRCm39) missense probably benign 0.00
R5459:Zkscan3 UTSW 13 21,578,982 (GRCm39) missense probably damaging 0.96
R5549:Zkscan3 UTSW 13 21,578,233 (GRCm39) missense probably damaging 1.00
R5631:Zkscan3 UTSW 13 21,578,703 (GRCm39) missense probably damaging 1.00
R5988:Zkscan3 UTSW 13 21,580,461 (GRCm39) missense probably damaging 1.00
R6495:Zkscan3 UTSW 13 21,572,075 (GRCm39) missense probably damaging 0.97
R7286:Zkscan3 UTSW 13 21,578,983 (GRCm39) missense probably benign
R7363:Zkscan3 UTSW 13 21,571,992 (GRCm39) missense probably damaging 0.99
R7443:Zkscan3 UTSW 13 21,572,608 (GRCm39) nonsense probably null
R7787:Zkscan3 UTSW 13 21,572,034 (GRCm39) missense possibly damaging 0.53
R9008:Zkscan3 UTSW 13 21,572,383 (GRCm39) missense possibly damaging 0.71
R9048:Zkscan3 UTSW 13 21,580,686 (GRCm39) start codon destroyed probably null 0.01
R9260:Zkscan3 UTSW 13 21,578,210 (GRCm39) missense probably damaging 0.98
R9281:Zkscan3 UTSW 13 21,579,045 (GRCm39) missense possibly damaging 0.96
R9300:Zkscan3 UTSW 13 21,577,667 (GRCm39) missense unknown
Z1088:Zkscan3 UTSW 13 21,572,735 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- ACAGTGCCCCACATGAGTGACTAC -3'
(R):5'- AGTGATCTAGAAGCAAACCTGCGTC -3'

Sequencing Primer
(F):5'- TGACTACGACAAAAAGAAGCTCTG -3'
(R):5'- GAGCTGTGGAAATACTTGCCTAAC -3'
Posted On 2013-04-12